Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 18 | 42602641 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.851 | 0.240 | 6 | 32187804 | intron variant | A/G | snv | 0.24 | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.200 | 12 | 55970537 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 132565533 | intron variant | A/G | snv | 0.33 | 0.820 | 1.000 | 1 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 102432614 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 5 | 6462225 | intron variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39672492 | missense variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39674647 | synonymous variant | A/G | snv | 0.67 | 0.64 | 0.710 | 1.000 | 1 | 2010 | 2011 | |||
|
2 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.240 | 6 | 32370918 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 4 | 143436584 | intron variant | A/G | snv | 0.74 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 5 | 111069977 | upstream gene variant | A/G | snv | 0.51 | 0.720 | 1.000 | 1 | 2011 | 2016 | ||||
|
3 | 0.925 | 0.160 | 17 | 39829548 | intron variant | A/G | snv | 0.54 | 0.710 | 1.000 | 1 | 2011 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 11 | 76559639 | regulatory region variant | A/G | snv | 0.29 | 0.810 | 1.000 | 1 | 2011 | 2011 |